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Researchers from the University of Leeds have identified a rare genetic disorder that results in babies being born with additional fingers and toes, along with a spectrum of birth defects. The disorder, yet to be named, is associated with a genetic mutation in the MAX gene. Besides causing polydactyly (extra digits), the mutation leads to neurological symptoms impacting ongoing brain growth, such as autism.
Published in The American Journal of Human Genetics, this groundbreaking study marks the first identification of a genetic link to this disorder. Additionally, the research has uncovered a potential treatment for some neurological symptoms, although further testing is required before it can be considered a viable therapy.
The study focused on three individuals exhibiting a unique combination of physical traits: polydactyly and macrocephaly (larger-than-average head circumference). These individuals also shared common characteristics, including delayed development of their eyes, leading to early vision problems.
By comparing the DNA of these individuals, researchers identified a shared genetic mutation responsible for the observed birth defects. Dr. James Poulter from the University of Leeds emphasized the importance of this research, stating, “Currently, there are no treatments for these patients. This means that our research into rare conditions is not only important to help us understand them better but also to identify potential ways to treat them.”
The researchers discovered a drug currently in clinical trials for another disorder that could potentially be fast-tracked for these patients if further research proves its efficacy in reversing the effects of the identified genetic mutation.
The interdisciplinary approach to studying rare diseases is highlighted as crucial in providing understanding and hope for treatment to affected families. Families dealing with such conditions often face years of uncertainty about their child’s condition and prognosis.
Dr. Poulter emphasized the impact of the diagnostic journey for families dealing with rare conditions, stating, “These families go through a long and complex diagnostic odyssey. The time from their first doctor’s visit as babies to getting a diagnosis can take more than 10 years. It is important that these patients and their families discover the cause of their condition—and if they can access a therapy based on their genetic diagnosis, that could be life-changing.”
The research team intends to expand their study to identify additional patients with mutations in the MAX gene, enhancing their understanding of the disorder and investigating the potential treatment’s impact on symptoms caused by the mutation.
